Endocrine Abstracts

Introduction: The association of kidney disease and diabetes mellitus is a classic feature evoking Maturity Onset Diabetes of the Young (MODY) 5 otherwise known as renal cysts and diabetes syndrome. Kidney Neoplasms are unusual feature of MODY 5. We report the case of a 45 year-old man diagnosed with kidney Neoplasm and Diabetes

Case report: A 45 year-old man with a history of Diabetes Mellitus treated with lifestyle management 8 months ago, presented to the Emergency Room with pain of the right flank and haematuria. He reported a similar episode of pain ten years prior, and the ultrasound showed no signs of kidney stone. On examination, the patient reported a progressive weight loss with polyphagia, polyuria, polydipsia and no anorexia. Initial blood and urine work-up showed diabetic ketosis with an elevate levels of Haemoglobin and haematocrit at 18.6 gram per decilitre and 56.8%, the patient was then admitted to the Endocrinology ward. He was initially put on intravenous Insulin and Saline perfusion, then on Insulin NPH twice a day. The Insulin dose was progressively decreased and then discontinued. Phlebotomy was prescribed twice a week. Kidney neoplasm was suspected because of the association of polycythaemia and haematuria Abdominal Ultra-sound showed a hypertrophy of the right kidney along with an ectopic pelvic left kidney. A CT-Urogram then showed a heterogeneous mass of the right kidney measuring 77*67*66 mm, with no vascular thrombosis. The patient underwent nephrectomy. Histo-pathological examination and genetic confirmation of MODY 5 are underway.

Discussion: Prevalence of MODY diabetes is unknown, but is estimated to be responsible of 1–5% of cases of diabetes mellitus. Mutation of the HNF1B gene is responsible of type 5, accounting for approximately 5% of MODY cases. Clinical features include renal abnormalities hypomagnesaemia, hyperuricaemia, pancreatic atrophy or partial agenesis, exocrine pancreatic dysfunction, liver test abnormalities, genital abnormalities. Some cases of chromohpobe renal cell carcinoma have been described.

Conclusion: The renal abnormalities, like kidney neoplasm, associated to Diabetes Mellitus, and low need of insulin, should make clinician suspect the diagnosis of MODY5. Screening for associated abnormalities and family screening should then be conducted.